Disease #05650 (AI (amelogenesis imperfecta (AI)))

Official abbreviation	AI
Name	amelogenesis imperfecta (AI)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	75
Phenotype entries for this disease	73
Associated with 3 genes	AMBN, AMELX, MMP20
Associated tissues	-
Disease features	-
Remarks	-

Individuals

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

75 entries on 1 page. Showing entries 1 - 75.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00264122	FamPatII1	PubMed: O'Sullivan 2011	3-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives	F	yes	Brazil	-	-	-	-	AI	see paper; …, amelogenesis imperfecta, gingival fibromatosis	FAM20A	FAM20A	1	4	Johan den Dunnen
00264123	FamPatII2	PubMed: O'Sullivan 2011	-	F	yes	Brazil	-	-	-	-	AI	see paper; …, amelogenesis imperfecta, gingival fibromatosis	FAM20A	FAM20A	1	1	Johan den Dunnen
00264124	FamPatII3	PubMed: O'Sullivan 2011	-	M	yes	Brazil	-	-	-	-	AI	see paper; …, amelogenesis imperfecta, gingival fibromatosis	FAM20A	FAM20A	1	1	Johan den Dunnen
00264125	FamPatII7	PubMed: O'Sullivan 2011	-	F	yes	Brazil	-	-	-	-	AI	see paper; …, amelogenesis imperfecta, gingival fibromatosis, mental retardation	FAM20A	FAM20A	1	1	Johan den Dunnen
00264126	Fam1	PubMed: Wang 2013	4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives	F;M	-	-	Caribbean	-	-	-	AI	see paper; …, severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, nephrocalcinosis	FAM20A	FAM20A	1	3	Johan den Dunnen
00264127	Fam2	PubMed: Wang 2013	5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	-	Jordan	-	-	-	AI	see paper; …, severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, nephrocalcinosis	FAM20A	FAM20A	2	1	Johan den Dunnen
00264128	Fam3	PubMed: Wang 2013	3-generation family, 2 affected cousins, unaffected heterozygous carrier parents/relatives	F;M	no	-	Iran	-	-	-	AI	see paper; …, severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, nephrocalcinosis	FAM20A	FAM20A	1	2	Johan den Dunnen
00264132	Fam1	PubMed: Jaureguiberry 2012	2-generation family, 1 affected, unaffected parents	M	-	-	-	-	-	-	AI	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	FAM20A	FAM20A	1	1	Johan den Dunnen
00264133	Fam2	PubMed: Jaureguiberry 2012	2-generation family, 2 affected (F, M), unaffected parents	F;M	-	-	-	-	-	-	AI	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	FAM20A	FAM20A	2	2	Johan den Dunnen
00264134	Fam3	PubMed: Jaureguiberry 2012	2-generation family, 2 affected (F, M), unaffected parents	F;M	-	-	-	-	-	-	AI	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	FAM20A	FAM20A	2	2	Johan den Dunnen
00264135	Fam4	PubMed: Jaureguiberry 2012	2-generation family, 2 affected (F, M), unaffected parents	F;M	-	-	-	-	-	-	AI	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	FAM20A	FAM20A	1	2	Johan den Dunnen
00264136	Fam5	PubMed: Jaureguiberry 2012	2-generation family, 1 affected, unaffected parents	F	-	-	-	-	-	-	AI	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	FAM20A	FAM20A	1	1	Johan den Dunnen
00264137	Fam6	PubMed: Jaureguiberry 2012	2-generation family, 1 affected, unaffected parents	M	-	-	-	-	-	-	AI	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	FAM20A	FAM20A	1	1	Johan den Dunnen
00264138	Fam7	PubMed: Jaureguiberry 2012	2-generation family, 2 affected (F, M), unaffected parents	F;M	-	-	-	-	-	-	AI	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	FAM20A	FAM20A	1	2	Johan den Dunnen
00264139	Fam8	PubMed: Jaureguiberry 2012	2-generation family, 1 affected, unaffected parents	M	-	-	-	-	-	-	AI	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	FAM20A	FAM20A	1	1	Johan den Dunnen
00264140	Fam9	PubMed: Jaureguiberry 2012	2-generation family, 1 affected, unaffected parents	F	-	-	-	-	-	-	AI	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	FAM20A	FAM20A	1	1	Johan den Dunnen
00264141	Fam10	PubMed: Jaureguiberry 2012	2-generation family, 1 affected, unaffected parents	F	-	-	-	-	-	-	AI	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	FAM20A	FAM20A	2	1	Johan den Dunnen
00264142	Fam11	PubMed: Jaureguiberry 2012	2-generation family, 2 affected (F, M), unaffected parents	F;M	-	-	-	-	-	-	AI	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	FAM20A	FAM20A	2	2	Johan den Dunnen
00264143	Fam12	PubMed: Jaureguiberry 2012	2-generation family, 1 affected, unaffected parents	F	-	-	-	-	-	-	AI	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	FAM20A	FAM20A	1	1	Johan den Dunnen
00264144	Fam13	PubMed: Jaureguiberry 2012	2-generation family, 2 affected (F, M), unaffected parents	F;M	-	-	-	-	-	-	AI	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	FAM20A	FAM20A	2	2	Johan den Dunnen
00264145	Fam14	PubMed: Jaureguiberry 2012	2-generation family, 1 affected, unaffected parents	F	-	-	-	-	-	-	AI	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	FAM20A	FAM20A	1	1	Johan den Dunnen
00264146	Fam15	PubMed: Jaureguiberry 2012	2-generation family, 3 affected (F, 2M), unaffected parents	F;M	-	-	-	-	-	-	AI	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	FAM20A	FAM20A	1	3	Johan den Dunnen
00264147	Fam16	PubMed: Jaureguiberry 2012	2-generation family, 2 affected (2F), unaffected parents	F	-	-	-	-	-	-	AI	nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)	FAM20A	FAM20A	2	2	Johan den Dunnen
00335344	Fam1	PubMed: Nikolopoulos 2021	family, 1 affected	-	-	Costa Rica	-	-	-	-	AI	see paper; ...	MMP20	MMP20	1	1	LOVD
00335345	Fam2	PubMed: Nikolopoulos 2021	family, 1 affected	-	-	United Kingdom (Great Britain)	-	-	-	-	AI	see paper; ...	MMP20	MMP20	1	1	LOVD
00335346	Fam3	PubMed: Nikolopoulos 2021	family, 3 affected	-	-	United Kingdom (Great Britain)	-	-	-	-	AI	see paper; ...	MMP20	MMP20	1	3	LOVD
00335347	Fam4	PubMed: Nikolopoulos 2021	family, 1 affected	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	AI	see paper; ...	MMP20	MMP20	1	1	LOVD
00335348	Fam5	PubMed: Nikolopoulos 2021	family, 1 affected	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	AI	see paper; ...	MMP20	MMP20	1	1	LOVD
00335349	Fam6	PubMed: Nikolopoulos 2021	family, 3 affected	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	AI	see paper; ...	MMP20	MMP20	1	3	LOVD
00335350	Fam7	PubMed: Nikolopoulos 2021	family, 2 affected	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	AI	see paper; ...	MMP20	MMP20	1	2	LOVD
00335351	Fam8	PubMed: Nikolopoulos 2021	family, 2 affected	-	-	Oman	-	-	-	-	AI	see paper; ...	MMP20	MMP20	1	2	LOVD
00335352	Fam9	PubMed: Nikolopoulos 2021	family, 1 affected	-	-	Oman	-	-	-	-	AI	see paper; ...	MMP20	MMP20	1	1	LOVD
00335353	Fam10	PubMed: Nikolopoulos 2021	family, 1 affected	-	-	United Kingdom (Great Britain)	-	-	-	-	AI	see paper; ...	MMP20	MMP20	2	1	LOVD
00335354	FamPatIII2	PubMed: Papagerakis 2008	3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	-	United States	-	-	-	-	AI	see paper; ...	MMP20	MMP20	1	1	LOVD
00335355	V2.13;Pat3	PubMed: Prasad 2016, PubMed: Gasse 2017	-	M	-	France	-	-	-	-	AI	see paper; ...	MMP20	MMP20	5	1	LOVD
00335356	Fam2	PubMed: Kim 2020	3-generation family, 1 affected, unaffected parents	M	no	Turkey	-	-	-	-	AI	see paper; ...	MMP20	MMP20	2	1	LOVD
00335357	V2.07	PubMed: Prasad 2016	-	M	-	France	-	-	-	-	AI	see paper; ...	MMP20	MMP20	2	1	LOVD
00335358	Pat1	PubMed: Gasse 2017	2-generation family, 1 affected	M	-	France	-	-	-	-	AI	see paper; ...	MMP20	MMP20	1	1	LOVD
00335359	Pat2	PubMed: Gasse 2013	2-generation family, 1 affected	F	no	France	-	-	-	-	AI	see paper; ...	MMP20	MMP20	2	1	LOVD
00335360	Pat1	PubMed: Gasse 2013	2-generation family, 1 affected	F	yes	France	-	-	-	-	AI	see paper; ...	MMP20	MMP20	1	1	LOVD
00335361	Fam2	PubMed: Kim 2017	3-generation family, 1 affected	F	no	-	-	-	-	-	AI	see paper; ...	MMP20	MMP20	2	1	LOVD
00335362	Pat4	PubMed: Gasse 2017	-	M	no	France	-	-	-	-	AI	see paper; ...	MMP20	MMP20	2	1	LOVD
00335363	Fam2	PubMed: Wang 2013	3-generation family, 1 affected	M	-	United States	-	-	-	-	AI	see paper; ...	MMP20	MMP20	1	1	LOVD
00335364	Fam1	PubMed: Kim 2020	3-generation family, mixed phenotype, 6 affected; affectedsister/brother	F;M	yes	Turkey	-	-	-	-	AI	see paper; ...	AMELX, MMP20	MMP20	1	6	LOVD
00335365	family	PubMed: Ozdemir 2005	4-generation family, affected brother/sister	F;M	yes	Turkey	-	-	-	-	AI	see paper; ...	MMP20	MMP20	4	2	LOVD
00335366	patient	PubMed: Wright 2011	-	-	-	United States	-	-	-	-	AI	see paper; ...	MMP20	MMP20	1	1	LOVD
00335367	Fam1	PubMed: Kim 2017	4-generation family, affected brother/sister	F;M	yes	-	-	-	-	-	AI	see paper; ...	MMP20	MMP20	1	1	LOVD
00335368	family	PubMed: Lee 2010	4-generation family, 2 affected brothers	M	yes	Korea	-	-	-	-	AI	see paper; ...	MMP20	MMP20	1	2	LOVD
00335369	Pat2	PubMed: Gasse 2017	2-generation family, 1 affected	F	-	France	-	-	-	-	AI	see paper; ...	MMP20	MMP20	2	1	LOVD
00335370	family	PubMed: Kim 2005	3-generation family, affected father/son	M	-	United States	-	-	-	-	AI	see paper; ...	MMP20	MMP20	1	2	LOVD
00335371	patient	PubMed: Wright 2011	-	-	-	United States	-	-	-	-	AI	see paper; ...	MMP20	MMP20	1	1	LOVD
00335373	Fam2	PubMed: Seymen 2015	5-generation family, 2 affected sisters	F	yes	Turkey	-	-	-	-	AI	see paper; ...	MMP20	MMP20	1	2	LOVD
00335374	Fam3	PubMed: Kim 2020	3-generation family, 1 affected, unaffected parents	M	no	Turkey	-	-	-	-	AI	see paper; ...	MMP20	MMP20	2	1	LOVD
00335375	FamPat5	PubMed: Gasse 2017	2-generation family, 2 affected sisters	F	-	France	-	-	-	-	AI	see paper; ...	MMP20	MMP20	1	2	LOVD
00335376	FamPat6	PubMed: Gasse 2017	2-generation family, 2 affected sisters	F	-	France	-	-	-	-	AI	see paper; ...	MMP20	MMP20	1	2	LOVD
00335377	FamPatIII1	PubMed: Kim 2020	PatIII1	F;M	-	-	-	-	-	-	AI	-	AMELX	AMELX, MMP20	2	1	Johan den Dunnen
00378073	patient	PubMed: Flex 2021, Journal: Flex 2021	-	M	yes	Peru	-	-	-	-	AI, BCYM	short stature, short trunk, scoliosis, lordosis, facial dysmorphisms, lower limbs diplegia, platyspondly	LTBP3	EDA, LTBP3, TPH1	3	1	Valentina Imperatore
00385876	family	PubMed: Poulterh 2014	6-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives	F	yes	Costa Rica	-	-	-	-	AI	hypoplastic amelogenesis imperfecta involving primary and secondary dentitions, no other health problems	AMBN	AMBN, ESPNP	2	3	Johan den Dunnen
00385881	V1.14	PubMed: Prasad 2016	-	M	-	-	-	-	-	-	AI	isolated hypoplastic, hypomineralised amelogenesis imperfecta	WDR72	WDR72	2	1	Johan den Dunnen
00385882	V2.05	PubMed: Prasad 2016	-	M	yes	-	-	-	-	-	AI	isolated amelogenesis imperfecta	CNNM4	CNNM4	1	1	Johan den Dunnen
00385883	V2.08	PubMed: Prasad 2016	-	M	yes	-	-	-	-	-	AI	isolated hypomineralised amelogenesis imperfecta	SLC24A4	SLC24A4	1	1	Johan den Dunnen
00385884	V2.09	PubMed: Prasad 2016	2-generation family, affected mother/daughter; daughter	F	-	-	-	-	-	-	AI	isolated hypoplastic amelogenesis imperfecta	COL17A1	COL17A1	1	2	Johan den Dunnen
00385885	V2.18	PubMed: Prasad 2016	-	M	-	-	-	-	-	-	AI	isolated hypoplastic amelogenesis imperfecta	LAMB3	LAMB3	1	1	Johan den Dunnen
00385886	V2.20	PubMed: Prasad 2016	-	F	-	-	-	-	-	-	AI	isolated hypomature amelogenesis imperfecta	FAM83H	FAM83H	1	1	Johan den Dunnen
00385887	V2.26	PubMed: Prasad 2016	-	M	-	-	-	-	-	-	AI	isolated hypomineralised amelogenesis imperfecta	FAM83H	FAM83H	1	1	Johan den Dunnen
00385888	V2.28	PubMed: Prasad 2016	-	M	-	-	-	-	-	-	AI	isolated hypoplastic amelogenesis imperfecta	AMELX	AMELX	1	1	Johan den Dunnen
00385889	V2.29	PubMed: Prasad 2016	-	M	-	-	-	-	-	-	AI	isolated amelogenesis imperfecta	ENAM	ENAM	1	1	Johan den Dunnen
00385890	V2.48	PubMed: Prasad 2016	-	F	-	-	-	-	-	-	AI	isolated hypoplastic amelogenesis imperfecta	COL17A1	COL17A1	1	1	Johan den Dunnen
00385891	V2.53	PubMed: Prasad 2016	-	F	-	-	-	-	-	-	AI	isolated hypoplastic amelogenesis imperfecta	AMBN	AMBN	1	1	Johan den Dunnen
00385892	V2.63	PubMed: Prasad 2016	-	M	-	-	-	-	-	-	AI	isolated amelogenesis imperfecta	FAM83H	FAM83H	1	1	Johan den Dunnen
00385893	V2.79	PubMed: Prasad 2016	-	M	-	-	-	-	-	-	AI	isolated hypoplastic, hypomature amelogenesis imperfecta	COL17A1	COL17A1	1	1	Johan den Dunnen
00385894	V2.82	PubMed: Prasad 2016	2-generation family, affected mother/daugther	F	-	-	-	-	-	-	AI	isolated hypoplastic amelogenesis imperfecta; more severe phenotype compared to mother (without LAMA3 variant), possible di-genic inheritance	COL17A1, LAMA3	COL17A1, LAMA3	2	2	Johan den Dunnen
00385895	V2.06	PubMed: Prasad 2016	-	F	-	-	-	-	-	-	AI	enamel renal syndrome, amelogenesis imperfecta	FAM20A	FAM20A	1	1	Johan den Dunnen
00385923	V2.32	PubMed: Prasad 2016	-	F	-	-	-	-	-	-	AI	amelogenesis imperfecta hypomineralised, hypoplastic	FAM20A	FAM20A	2	1	Johan den Dunnen
00385924	V2.86	PubMed: Prasad 2016	-	F	-	-	-	-	-	-	AI	amelogenesis imperfecta hypoplastic	LAMB3	LAMB3	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD